Fragile X syndrome

Project Details

Fragile X syndrome is the most common monogenic cause of intellectual disability worldwide. In conjunction with David Godler and his team at MCRI, we are studying various aspects of Fragile X syndrome including the correlation between epigenetic changes at the FMR1 locus and neuropsychological phenotypes in children and adults with Fragile X syndrome. We also have an interest in developing new molecular tests for Fragile X and population screening.


We collaborate with a range of different groups including those from the Royal Children's Hospital Melbourne, Murdoch Childrens Research Institute, University of Melbourne.  Our principle local collaborators are A/Prof Paul Lockhart, Professor Martin Delatycki and Dr Rick Leventer (Accelerated Gene Identification Program), A/Prof Melanie Bahlo (bioinformatics lead for the AGIP Program), Prof Jane Halliday (IVF studies and epidemiology), Dr David Godler (epigenetics and Fragile X), Prof Katrina Williams (Autism research), Prof Dinah Reddihough (cerebral palsy research), A/Prof Angela Morgan (Genetics of speech and language disorders).


We are funded through NHMRC and various philanthropic organisations.

Research Outcomes

  • Godler DE, Slater HR, Amor DJ, Loesch DZ (2010) Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome. Genet Med 12:595
  • Loesch D, Sherwell S, Kinsella G, Tassone F, Taylor A, Amor DJ, Sung S, Evans A (2011) Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clinical Genetics 82:88-92
  • Godler DE, Slater HR, Bui QM, Ono M, Gehling F, Francis D,  Amor DJ, Hopper J, Hennerich D, Taylor AK, Hagerman R, Loesch DZ (2011) FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles. J Molec Diag 13:528-36
  • Godler D, Slater H, Bui Q, Storey E, Ono M, Gehling F, Inaba Y, Francis D, Hopper J, Kinsella G, Amor D, Hagerman R, Loesch D, Fragile X Mental Retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study. (2012) Clinical Chemistry 58:590-8
  • Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE (2013). Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. Genet Med 15:290-8.
  • Godler DE, Inaba Y, Shi EZ, Skinner C, Bui QM, Francis D, Amor DJ, Hopper JL, Loesch DZ, Hagerman RJ, Schwartz CE, Slater HR. (2013) Relationships between age and epi-genotype of the FMR1 exon 1 / intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty. Hum Mol Genet 22:1516-24.
  • Godler DE, Amor DJ, Slater HR (2014) Methylation Analysis in Newborn Screening for Fragile X Syndrome. JAMA Neurology 71:800
  • Inaba Y, Schwartz CE, Bui QM, Li X, Skinner C, Field M, Wotton T, Hagerman RJ, Francis D, Amor DJ, Hopper JL, Loesch DZ, Bretherton L, Slater HR, Godler DE. (2014) Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots. Clinical Chemistry 60:963-73.
  • Godler D, Inaba Y, Schwatrz CE, Bui QM, Shi EZ, Li X, Herlihy AS, Skinner C, Hagerman RJ, Francis D, Amor DJ, Metcalfe SA, Hopper JL, Slater HR (2015) Detection of Skewed X-chromosome Inactivation in Fragile X Syndrome and X chromosome Aneuploidy using Quantitative Melt Analysis. Expert reviews in molecular medicine 17:e13
  • Aliaga SM, Slater HR, Francis D, Du Sart D, Li X, Amor DJ, Alliende AM, Santa Maria L, Faundes V, Morales P, Trigo C, Salas I, Curotto B, Godler DE (2016). Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis. Clinical Chemistry 62:343-52

Research Group

Murdoch Children’s Research Institute Genetics of Neurodisability

Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine, Neuroscience & Psychiatry

Key Contact

For further information about this research, please contact the research group leader.

Department / Centre


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